Varaico: Literature-Extracted Genetic Variants

MANBA

176 papers

RefSeq Summary

This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosacchari...

Pfam Domains

Glyco_hydro_2_N2aa 29–203UCSCGlycosyl hydrolase 2 galactose-binding domain-like

Glyco_hydro_2_Caa 340–577UCSCGlycosyl hydrolases family 2, TIM barrel domain

Mannosidase_igaa 700–795UCSCMannosidase Ig/CBM-like domain

Ig_mannosidaseaa 799–878UCSCIg-fold domain

Gene Aliases

HGNC Name

mannosidase beta

HGNC Previous Name

mannosidase, beta A, lysosomal

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005908.4

p.D240A

c.719A>C

Surrounding Variants

1 paper

NM_005908.4

p.S244*

c.731C>G

1 paper

NM_005908.4

p.S244*

c.731C>A

1 paper

NM_005908.4

p.E234D

c.702A>T

1 paper

NM_005908.4

p.E234D

c.702A>C

1 paper

NM_005908.4

p.E234Q

c.700G>C

1 paper

NM_005908.4

p.N232H

c.694A>C

7 papers

NM_005908.4

p.W231*

c.693G>A

6 papers

NM_005908.4

p.W231*

c.692G>A

1 paper

NM_005908.4

p.Q229*

c.685C>T

2 papers

NM_005908.4

p.V253L

c.757G>T

2 papers

NM_005908.4

p.V253L

c.757G>C

9 papers

NM_005908.4

p.V253I

c.757G>A